Variant report

Variant	nsv442178
Chromosome Location	chr10:46072875-46076231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:46075326..46077121-chr10:46078521..46080983,2	K562	blood:
2	chr10:46074816..46082903-chr10:46083299..46090228,15	K562	blood:

Variant related genes	Relation type
ENSG00000165406	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368041439	chr10:46072875-46072876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149709008	chr10:46072876-46072877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34383275	chr10:46072877-46072878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539859080	chr10:46072878-46072879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183173863	chr10:46072883-46072884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562161663	chr10:46072964-46072965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34077188	chr10:46072987-46072988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375975010	chr10:46072999-46073000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371586464	chr10:46073020-46073021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71515366	chr10:46073088-46073089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372972580	chr10:46073092-46073093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187543633	chr10:46073098-46073099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191955271	chr10:46073111-46073112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559950616	chr10:46073178-46073179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571442138	chr10:46073369-46073370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534053480	chr10:46073403-46073404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570372682	chr10:46073428-46073429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553689413	chr10:46073441-46073442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537788655	chr10:46073503-46073504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548698735	chr10:46073537-46073538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567280543	chr10:46073606-46073607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534387050	chr10:46073662-46073663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145587769	chr10:46073681-46073682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148743603	chr10:46073683-46073684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538455671	chr10:46073694-46073695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184120328	chr10:46073727-46073728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575448444	chr10:46073751-46073752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188632496	chr10:46073811-46073812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555462250	chr10:46073831-46073832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567441097	chr10:46073838-46073839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573992938	chr10:46073863-46073864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541136021	chr10:46073868-46073869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559887132	chr10:46073922-46073923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533524355	chr10:46073964-46073965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79319916	chr10:46073980-46073981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs563918870	chr10:46074006-46074007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531087946	chr10:46074007-46074008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555883692	chr10:46074015-46074016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377267717	chr10:46074019-46074020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575740431	chr10:46074051-46074052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560049855	chr10:46074082-46074083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142365881	chr10:46074153-46074154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71515367	chr10:46074186-46074187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528092573	chr10:46074190-46074191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192779440	chr10:46074221-46074222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184240700	chr10:46074223-46074224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538396163	chr10:46074259-46074260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188736900	chr10:46074289-46074290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569070346	chr10:46074318-46074319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71496620	chr10:46074329-46074330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46047000-46076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:46054200-46075600	Weak transcription	Primary T cells from cord blood	blood
3	chr10:46054200-46075800	Weak transcription	Right Atrium	heart
4	chr10:46054400-46073400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr10:46055600-46073600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:46056200-46075000	Weak transcription	Primary B cells from cord blood	blood
7	chr10:46056200-46075200	Weak transcription	Thymus	Thymus
8	chr10:46056400-46073400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:46058200-46076200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:46064400-46075200	Weak transcription	Fetal Thymus	thymus
11	chr10:46069600-46073600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:46070200-46075400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:46070400-46073000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:46071200-46075800	Weak transcription	Brain Hippocampus Middle	brain
15	chr10:46071600-46075600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:46071600-46075800	Weak transcription	Fetal Intestine Large	intestine
17	chr10:46071600-46076200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr10:46071800-46074000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr10:46071800-46075800	Weak transcription	Stomach Mucosa	stomach
20	chr10:46071800-46076200	Weak transcription	Brain Substantia Nigra	brain
21	chr10:46071800-46076400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:46071800-46076400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:46072000-46073000	Enhancers	HepG2	liver
24	chr10:46072000-46076200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr10:46072000-46076400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:46072200-46073600	Weak transcription	K562	blood
27	chr10:46072200-46076200	Weak transcription	Psoas Muscle	Psoas
28	chr10:46072400-46075000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:46072400-46075800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:46072400-46075800	Weak transcription	Left Ventricle	heart
31	chr10:46072600-46073800	Weak transcription	Liver	Liver
32	chr10:46072600-46073800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr10:46072600-46075800	Weak transcription	Fetal Intestine Small	intestine
34	chr10:46072600-46076200	Weak transcription	Colon Smooth Muscle	Colon
35	chr10:46072600-46086600	Weak transcription	Small Intestine	intestine
36	chr10:46073000-46073400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:46073000-46073400	Weak transcription	HepG2	liver
38	chr10:46073200-46075400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr10:46073400-46074400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:46073400-46074800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr10:46073400-46075200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:46073400-46075400	Enhancers	HepG2	liver
43	chr10:46073600-46073800	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:46073600-46073800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:46073600-46075200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:46073600-46075400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr10:46073600-46075600	Enhancers	Primary hematopoietic stem cells	blood
48	chr10:46073600-46075600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:46073600-46075600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:46073600-46075600	Enhancers	Primary T helper cells fromperipheralblood	blood

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